Variant report

Variant	rs8035916
Chromosome Location	chr15:57427941-57427942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10467927	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10467928	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10467929	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11071308	0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs11853810	0.90[JPT][hapmap]
rs11856210	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs11856411	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12101455	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12591430	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13379847	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430820	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs1430822	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs16977243	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16977270	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16977278	0.89[JPT][hapmap]
rs17415731	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs1841697	0.84[EUR][1000 genomes]
rs2169467	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2414493	0.84[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap]
rs2593211	0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs2593249	0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs2593250	0.86[EUR][1000 genomes]
rs2593252	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2615227	0.89[JPT][hapmap]
rs2703614	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2733323	0.84[JPT][hapmap]
rs2733333	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2733334	0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28372003	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28712697	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28781690	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3803453	0.89[JPT][hapmap]
rs58479554	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6493900	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67077316	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7162194	0.91[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7163267	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7164298	0.89[JPT][hapmap]
rs7164655	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs7169508	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7171073	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs7171304	0.90[CEU][hapmap]
rs7173748	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs7176873	0.83[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs7178833	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs7180558	0.83[JPT][hapmap]
rs720290	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs8023736	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8024901	0.89[JPT][hapmap]
rs8026702	0.89[JPT][hapmap]
rs8031640	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs8032615	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap]
rs8034066	0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap]
rs8034502	0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs8034843	0.83[JPT][hapmap]
rs8035485	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs8037956	0.85[JPT][hapmap]
rs8039176	0.82[JPT][hapmap]
rs8039899	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9302200	0.91[CEU][hapmap];0.85[CHB][hapmap]
rs9806170	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9806199	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs997683	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8035916	LOC283663	Cis_1M	lymphoblastoid	RTeQTL
rs8035916	TCF12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57387000-57430000	Weak transcription	Placenta	Placenta
2	chr15:57387600-57442400	Weak transcription	Fetal Intestine Large	intestine
3	chr15:57410600-57440800	Weak transcription	Ovary	ovary
4	chr15:57411000-57428200	Weak transcription	NHLF	lung
5	chr15:57411000-57430400	Weak transcription	NH-A	brain
6	chr15:57413800-57428800	Weak transcription	Gastric	stomach
7	chr15:57415000-57428400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:57415000-57438800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr15:57415600-57438800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr15:57416000-57438800	Weak transcription	Primary B cells from cord blood	blood
11	chr15:57416800-57430800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:57419000-57428400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:57419600-57439000	Weak transcription	Fetal Intestine Small	intestine
14	chr15:57420600-57428200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:57421800-57436600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:57422600-57430400	Weak transcription	Fetal Heart	heart
17	chr15:57423200-57428400	Enhancers	Primary T cells from cord blood	blood
18	chr15:57424200-57428400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:57424400-57428600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr15:57424600-57428200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:57424600-57428200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr15:57424600-57428400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr15:57424800-57428400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr15:57425000-57428200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:57425200-57428000	Enhancers	NHDF-Ad	bronchial
26	chr15:57425200-57428400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr15:57425200-57428600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr15:57425400-57428600	Enhancers	Fetal Kidney	kidney
29	chr15:57425600-57432200	Enhancers	Fetal Lung	lung
30	chr15:57425800-57428000	Weak transcription	Osteobl	bone
31	chr15:57425800-57428400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:57425800-57428400	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:57425800-57428400	Weak transcription	Left Ventricle	heart
34	chr15:57425800-57429000	Enhancers	Brain Anterior Caudate	brain
35	chr15:57425800-57429000	Enhancers	Brain Germinal Matrix	brain
36	chr15:57425800-57429200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr15:57425800-57429800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:57425800-57430400	Weak transcription	Right Atrium	heart
39	chr15:57425800-57430400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr15:57425800-57434800	Strong transcription	Fetal Thymus	thymus
41	chr15:57425800-57438800	Weak transcription	HSMM	muscle
42	chr15:57425800-57440800	Weak transcription	Thymus	Thymus
43	chr15:57425800-57442200	Weak transcription	Right Ventricle	heart
44	chr15:57426000-57428000	Enhancers	Brain Angular Gyrus	brain
45	chr15:57426000-57429000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr15:57426000-57431000	Enhancers	Brain Hippocampus Middle	brain
47	chr15:57426000-57431800	Enhancers	Brain Substantia Nigra	brain
48	chr15:57426200-57428400	Enhancers	Fetal Brain Male	brain
49	chr15:57426200-57432400	Enhancers	Brain Cingulate Gyrus	brain
50	chr15:57426400-57429000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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